AXENFELD-RIEGER SYNDROME, TYPE 3

General Information (adopted from Orphanet):

Synonyms, Signs: RIEGER ANOMALY, INCLUDED
AXENFELD-RIEGER ANOMALY WITH OR WITHOUT CARDIAC DEFECTS AND/OR SENSORINEURAL HEARING LOSS
ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS
ANTERIOR CHAMBER CLEAVAGE SYNDROME
AXENFELD-RIEGER ANOMALY, INCLUDED
RIEGER SYNDROME, TYPE 3 AXENFELD ANOMALY, INCLUDED
RIEG3
Number of Symptoms 22
OrphanetNr:
OMIM Id: 602482
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
Heterogeneous
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000316) Hypertelorism 644 / 7739
2
(HPO:0000272) Malar flattening 277 / 7739
3
(HPO:0000691) Microdontia 104 / 7739
4
(HPO:0011120) Concave nasal ridge 9 / 7739
5
(HPO:0000520) Proptosis 192 / 7739
6
(HPO:0000668) Hypodontia 81 / 7739
7
(HPO:0000627) Posterior embryotoxon 15 / 7739
8
(HPO:0007676) Hypoplasia of the iris 22 / 7739
9
(HPO:0009918) Ectopia pupillae 6 / 7739
10
(HPO:0000501) Glaucoma 180 / 7739
11
(HPO:0000407) Sensorineural hearing impairment 524 / 7739
12
(HPO:0001631) Atria septal defect 274 / 7739
13
(HPO:0001643) Patent ductus arteriosus 228 / 7739
14
(OMIM) Schwalbe line (posterior embryotoxon) 1 / 7739
15
(OMIM) Valvular defects 3 / 7739
16
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
17
(OMIM) Iris strands attached to Schwalbe line bridging the iridocorneal angle 1 / 7739
18
(HPO:0001320) Cerebellar vermis hypoplasia 57 / 7739
19
(HPO:0011800) Midface retrusion 221 / 7739
20
(OMIM) Anteriorly displaced eyes 1 / 7739
21
(HPO:0001425) Heterogeneous 132 / 7739
22
(OMIM) Umbilical defect (redundant periumbilical skin) 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Gould et al. (1997) examined 13 members of a 4-generation family segregating autosomal dominant Axenfeld-Rieger anomaly and identified 7 affected individuals, who had a prominent and anteriorly displaced Schwalbe line, iris stromal hypoplasia, and corectopia; nonocular features of ...
Genotype-Phenotype Correlations OMIM Using patient records and clinical questionnaires, Strungaru et al. (2007) reviewed 126 patients diagnosed with Axenfeld-Rieger malformation or syndrome, representing 20 probands, in whom mutations in the PITX2 or FOXC1 genes had been identified. The authors found that ...
Molecular genetics OMIM In a patient with primary congenital glaucoma who had a balanced translocation between 6p25 and 13q22, Nishimura et al. (1998) cloned the chromosomal breakpoints and identified 2 candidate genes, 1 of which was the FKHL7 (FOXC1) gene. In ...